TABLE 3.

Selected major structural birth defects (BDs) and updated algorithms for identifying these defects in automated healthcare data (shading denotes those BDs undergoing validation through chart review)

Organ system	Specific diagnoses (ICD-10-CM Codes)	Updated algorithms
Central nervous system	Neural tube defects: Encephalocele, cranial Meningocele, encephalomyelocele, spina bifida	1 inpatient diagnosis or 2 outpatient diagnoses or 1 diagnosis and death in first year
	Microcephaly	1 diagnosis at birth or head circumference <5%ile at birth or 3 diagnoses in first 3 months or 1 diagnosis and death in the first year
	Holoprosencephaly	2 outpatient diagnoses or 1 diagnosis and death in first year
Eye	Anophthalmia, microphthalmia, cataracts and other Lens defects	2 outpatient diagnosis or 1 diagnosis and death in first year
Ear	Anotia, Microtia	2 outpatient diagnoses or 1 diagnosis and death in first year
Cardiac	Severe cardiac defects: Single ventricle, tricuspid atresia, ebstein anomaly, hypoplastic left heart, hypoplastic right heart, common truncus, transposition, atrioventricular septal defects, tetralogy of fallot, aortic valve atresia or stenosis, coarctation, total anomalous pulmonary venous return	2 inpatient diagnoses or 1 inpatient and 1 outpatient diagnosis or 1 diagnosis and death in first year
	Other cardiac defects: Septal defects, heterotaxy, pulmonary valve atresia, tricuspid stenosis, partial anomalous pulmonary venous return	2 diagnoses or 1 diagnosis and death in first year
Orofacial/Respiratory	Choanal atresia	2 outpatient diagnoses or 1 diagnosis and death in first year
	Cleft lip and/or Cleft palate	1 inpatient diagnosis or 2 outpatient diagnoses or 1 diagnosis and death in first year
Gastrointestinal	Biliary atresia	1 inpatient diagnosis or 2 outpatient diagnoses or 1 diagnosis and death in first year
	Intestinal atresia or stenosis	1 inpatient diagnosis or 2 outpatient diagnoses or 1 diagnosis and death in first year
	Esophageal atresia with or without tracheoesophageal fistula	2 outpatient diagnoses or 1 inpatient and 1 outpatient diagnosis or 1 diagnosis and death in first year
	Pyloric stenosis	1 inpatient diagnosis or 1 diagnosis and death in first year
	Bladder exstrophy	1 inpatient diagnosis by 3 months of age and 1 outpatient diagnosis by 1 year or 1 diagnosis and death in the first year
Genitourinary/Renal	Hypospadias	2 outpatient diagnoses or 1 diagnosis and death in first year; males only
	Renal dysplasia	2 outpatient diagnoses or 1 diagnosis and death in first year;
	Renal agenesis or hypoplasia	1 inpatient diagnosis and 1 outpatient diagnosis or 1 diagnosis and death in first year
	Posterior urethral valves	2 outpatient diagnoses or 1 diagnosis and death in first year; males only
Musculoskeletal	Gastroschisis	1 inpatient diagnosis or 2 outpatient diagnoses or 1 diagnosis and death in first year
	Omphalocele	1 inpatient diagnosis by 3 months of age or 1 diagnosis and death in first year
	Congenital diaphragmatic hernia	1 inpatient diagnosis by 3 months of age or 1 diagnosis and death in first year
	Limb deficiency	1 inpatient or 2 outpatient diagnoses and 1 diagnosis within 3 months or 1 diagnosis and death in first year